Pyruvate Metabolism, Inborn Errors D015323

Description

Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.   MeSH

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Subtype Terms (3)

Leigh Disease
3 drugs (1 approved, 2 experimental)

Pyruvate Dehydrogenase Complex Deficiency Disease
2 drugs (1 approved, 1 experimental)


Organization Involved with Phase 3 Indications (1)

Organization Involved with Phase 1 Indications (2)

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UMLS Data


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